Detalhe da pesquisa
1.
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics
; 15(2): 117-27, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643514
2.
The G-protein coupled receptor associated sorting protein GASP-1 regulates the signalling and trafficking of the viral chemokine receptor US28.
Traffic
; 11(5): 660-74, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20102549
3.
Defining 'chromosomal instability'.
Trends Genet
; 24(2): 64-9, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18192061
4.
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Am J Hum Genet
; 82(1): 88-99, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179888
5.
Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification.
Clin Chem
; 57(7): 1032-41, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21558453
6.
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
Am J Med Genet A
; 155A(10): 2469-72, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22043488
7.
Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.
Sci Rep
; 11(1): 6737, 2021 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33762593
8.
Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.
J Cell Mol Med
; 14(8): 2078-84, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20597996
9.
Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations.
Histopathology
; 57(6): 877-84, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21166701
10.
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Am J Med Genet A
; 152A(12): 3173-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108404
11.
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
Am J Med Genet B Neuropsychiatr Genet
; 150B(6): 817-26, 2009 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19086034
12.
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
Eur J Med Genet
; 49(4): 338-45, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16829355
13.
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.
Orthop Surg
; 5(1): 33-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420745
14.
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
Eur J Paediatr Neurol
; 15(3): 271-5, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21316993
15.
Altered bone matrix mineralization in a patient with Rett syndrome.
Bone
; 47(3): 701-5, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20601296
16.
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Eur J Hum Genet
; 17(9): 1154-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19259128
17.
Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation.
Chromosoma
; 117(2): 123-35, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17989990
18.
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Mol Genet Genomics
; 277(1): 71-81, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17043892
19.
Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
J Hum Genet
; 51(2): 141-146, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16365682
20.
Sporadic gastric Peutz-Jeghers polyp with intraepithelial neoplasia.
APMIS
; 117(12): 941-3, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20078560